EGR2 - early growth response 2 Gene
Also Known as CHN1; AT591; CMT1D; CMT4E; KROX20
Species: Homo sapiens
About EGR2
This gene has 7 transcripts (splice variants), 260 orthologues, 4 paralogues and is associated with 7 phenotypes. Biased expression in thyroid (RPKM 66.1), gall bladder (RPKM 19.2) and 11 other tissues.
Summary
The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
EGR2 Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_000399.5 | NP_000390.2 | E3 SUMO-protein ligase EGR2 isoform a |
| NM_001136177.3 | NP_001129649.1 | E3 SUMO-protein ligase EGR2 isoform a |
| NM_001136178.2 | NP_001129650.1 | E3 SUMO-protein ligase EGR2 isoform a |
| NM_001136179.3 | NP_001129651.1 | E3 SUMO-protein ligase EGR2 isoform b |
| NM_001321037.2 | NP_001307966.1 | E3 SUMO-protein ligase EGR2 isoform b |
| NM_001410931.1 | NP_001397860.1 | E3 SUMO-protein ligase EGR2 isoform c |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription activator activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
12687019 | GOA |
| enables DNA-binding transcription factor activity |
IDA
IDA: Inferred from direct assay
|
14532282 | GOA |
| enables DNA-binding transcription factor activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
17717711 | GOA |
| enables RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
12687019 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
14532282 | GOA |
| enables sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
17717711 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| enables ubiquitin protein ligase binding |
IPI
IPI: Inferred from physical interaction
|
19651900 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in positive regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
12687019 | GOA |
EGR2 Protein Structure
DUF3446: Domain of unknown function (DUF3446) (94 - 184)
zf-H2C2_2: Zinc-finger double domain (357 - 380)
zf-H2C2_2: Zinc-finger double domain (384 - 408)
- 0
- 100
- 200
- 300
- 400
- 476 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
E3 SUMO-protein ligase EGR2 |
|
EGR2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82181 | EGR2 Antibody (YA1926) | WB | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1d |
|
|
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
|
| Charcot-Marie-Tooth Disease And Deafness |
|
|
| Tooth Disease |
|
|
| Neuropathy |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Sensory Peripheral Neuropathy |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1a |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1b |
|
|
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1c |
|
|
| Charcot-Marie-Tooth Disease, Type 4a |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
|
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2j |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4f |
|
|
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
|
| Polyneuropathy |
|
|
| Argyll Robertson Pupil |
|
|
| Abnormal Pupillary Function |
|
|
| Charcot-Marie-Tooth Disease, Type 4c |
|
|
| Demyelinating Polyneuropathy |
|
|
| Charcot-Marie-Tooth Disease Type X |
|
|
| Charcot-Marie-Tooth Disease, Type 4d |
|
|
| Charcot-Marie-Tooth Disease, Type 4h |
|
|
| Rett Syndrome |
|
|
| Plexiform Neurofibroma |
|
|
| Scoliosis |
|
|
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
|
| Charcot-Marie-Tooth Disease, Type 4b2 |
|
|
| Congenital Central Hypoventilation Syndrome |
|
|
| Neuromuscular Disease |
|
|
| Peripheral Nervous System Disease |
|
|
| Hirschsprung Disease 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | EGR2 | VGNC | VGNC:51893 |
| Rattus norvegicus | EGR2 | RGD | RGD:621608 |
| Felis catus | EGR2 | VGNC | VGNC:61760 |
| Bos taurus | EGR2 | VGNC | VGNC:52767 |
| Mus musculus | EGR2 | MGD | MGI:95296 |
| Macaca mulatta | EGR2 | VGNC | VGNC:72174 |
| Others | EGR2 | NCBI |